ClinVar Miner

List of variants in gene AFG3L2 reported as uncertain significance by GeneDx

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys) rs368594369 0.00016
NM_006796.3(AFG3L2):c.173T>C (p.Ile58Thr) rs779882681 0.00009
NM_006796.3(AFG3L2):c.634G>A (p.Val212Ile) rs201966169 0.00009
NM_006796.3(AFG3L2):c.1762G>A (p.Ala588Thr) rs374828650 0.00005
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr) rs756205069 0.00004
NM_006796.3(AFG3L2):c.1706A>C (p.Lys569Thr) rs758811358 0.00004
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp) rs180989155 0.00004
NM_006796.3(AFG3L2):c.292+2T>C rs779805236 0.00003
NM_006796.3(AFG3L2):c.1536A>C (p.Leu512Phe) rs768121027 0.00002
NM_006796.3(AFG3L2):c.1646T>C (p.Ile549Thr) rs757821473 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_006796.3(AFG3L2):c.76G>A (p.Gly26Ser) rs746437793 0.00002
NM_006796.3(AFG3L2):c.841A>G (p.Thr281Ala) rs200759046 0.00002
NM_006796.3(AFG3L2):c.1114G>A (p.Val372Ile) rs1908507908 0.00001
NM_006796.3(AFG3L2):c.1820A>G (p.Gln607Arg) rs774546735 0.00001
NM_006796.3(AFG3L2):c.1933G>A (p.Gly645Ser) rs201231686 0.00001
NM_006796.3(AFG3L2):c.344G>A (p.Gly115Asp) rs865891494 0.00001
NM_006796.3(AFG3L2):c.346G>A (p.Gly116Arg) rs1178773058 0.00001
NM_006796.3(AFG3L2):c.580C>T (p.Arg194Cys) rs1020519204 0.00001
NM_006796.3(AFG3L2):c.848G>A (p.Arg283Gln) rs758696616 0.00001
NM_006796.3(AFG3L2):c.1028G>T (p.Gly343Val)
NM_006796.3(AFG3L2):c.1208T>C (p.Ile403Thr)
NM_006796.3(AFG3L2):c.1295A>G (p.Asn432Ser) rs151344512
NM_006796.3(AFG3L2):c.1328CAA[2] (p.Thr445del) rs749105981
NM_006796.3(AFG3L2):c.148A>G (p.Ser50Gly) rs1568147292
NM_006796.3(AFG3L2):c.1528G>A (p.Ala510Thr)
NM_006796.3(AFG3L2):c.1616C>G (p.Ser539Cys)
NM_006796.3(AFG3L2):c.1684G>C (p.Val562Leu)
NM_006796.3(AFG3L2):c.1725A>T (p.Glu575Asp)
NM_006796.3(AFG3L2):c.1780G>A (p.Val594Ile) rs1057524515
NM_006796.3(AFG3L2):c.1984G>T (p.Val662Phe) rs1555670564
NM_006796.3(AFG3L2):c.2024T>C (p.Phe675Ser) rs2143111750
NM_006796.3(AFG3L2):c.2092G>T (p.Asp698Tyr) rs1598820833
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006796.3(AFG3L2):c.2167G>T (p.Val723Leu) rs139469785
NM_006796.3(AFG3L2):c.317G>A (p.Arg106His)
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser) rs863223888
NM_006796.3(AFG3L2):c.472A>C (p.Met158Leu) rs559781535
NM_006796.3(AFG3L2):c.487C>T (p.Leu163Phe)
NM_006796.3(AFG3L2):c.52G>C (p.Gly18Arg) rs1342360644
NM_006796.3(AFG3L2):c.704T>C (p.Ile235Thr)
NM_006796.3(AFG3L2):c.854T>G (p.Met285Arg) rs1057524764
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
NM_006796.3(AFG3L2):c.937T>C (p.Cys313Arg)

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